Inheritance, variation and

natural selection
a
Key definitions
 Chromosomes
⚫Chromosomes are a packaged form of DNA
⚫DNA molecule carries a code that instructs the
cell about which kinds of proteins it should
make
⚫Part of DNA molecule coding for one protein is
called a gene
⚫The DNA normally exists in a non-condensed
form in the cell nucleus (upper right)
⚫It condenses into chromosomes (centre and
lower left) during cell replication
⚫The gene responsible for a particular
characteristic is always on the same relative
position on the chromosome
 Mitosis
⚫Mitosis is the way in which any cell (plant or
animal) divides when an organism is:
⚫Growing
⚫Repairing a damaged part of its body
⚫Replacing worn out cells

⚫Mitosis is also used in asexual reproduction

⚫For example, sweet potato plant can
reproduce by growing adventitious roots or
runners which eventually produce new plants
 Process of mitosis
⚫ During the process, all the chromosomes in the parent cell are
copied

⚫ The parent cell (with 4 chromosomes) split to form 2 nuclei

each with 2 chromosomes as the parent nucleus cell

⚫ At the end of a mitotic cell division, the number of cells is

doubled and the daughter cells produced are genetically
identical to the parent
⚫Each chromosome is made up of two identical
threads joined together
⚫The two threads are called chromatids
⚫The point where they are held together is
called the centromere
 Meiosis
⚫Meiosis is the way in which gametes (sex cells)
are produced
⚫Gametes have only half the number of
chromosome of a normal body cell
⚫They have 1 set of chromosome instead of 2
⚫When they fuse together, the zygote formed
has 2 sets
 Stem cells
⚫Shortly after zygote is formed, it divides again
and again by mitosis
⚫Every new cell is genetically identical
⚫As embryo develops, the cells begin to take
on different roles = differentiation
Piece is copied
Ribosome assembles amino acids into
proteins. The sequence of amino acids is
determined by the mRNA.
 Inheritance
⚫Chromosomes each contain many genes
⚫There might be about 20 000 human genes,
carried on the two sets of 23 chromosomes
⚫Two complete sets of chromosomes = two
complete sets of genes
⚫Each chromosome in a homologous pair
contains genes for the same characteristic in
the same positions
 Alleles
⚫When the chromosomes are in pairs, there
may be a different form (allele) of the gene
on each chromosome
 Example: fur colour in chinchillas
⚫Allele that gives grey fur G
⚫Allele that gives charcoal fur g
⚫In each cell in a chinchilla’s body has two
genes giving instructions about which kind of
fur colour protein to make
⚫Three possible combinations of alleles
⚫GG ; Gg ; gg
⚫Two alleles are the same = homozygous (GG,
gg)
⚫If they are different = heterozygous (Gg)
 Genotype and phenotype
⚫The genes that a chinchilla has are its
genotype
⚫If the genotype is GG = grey fur
⚫If the genotype is Gg = grey fur
⚫If the genotype is gg = charcoal
⚫Phenotype is what it looks like
⚫In the case of chinchillas colour the phenotype
depends entirely on genotype
⚫This is not always true
⚫Environment may have effects on phenotype
 Dominant and recessive alleles
⚫Allele G is dominant
⚫Has just as much effect on the phenotype
when there is only one of it as when there is
two of it
⚫Homozygous dominant allele has the same
phenotype as a chinchilla that is heterozygous
⚫Heterozygous chinchilla is said to be a carrier
of the charcoal colour
⚫Allele g is recessive
⚫A recessive allele only affects the phenotype
when there is no dominant allele present
⚫Only homozygous recessive = charcoal fur
Genes and fertilisation (Fig 18.12 p237)
 Codominance
⚫Sometimes, neither of a pair of alleles is
completely dominant or completely recessive
⚫Instead of one of them completely hiding the
effect of the other in a heterozygote, they both
have an effect on the phenotype
 Codominance
⚫ The result is that there can be three different phenotypes
⚫ When writing the genotypes of codominant alleles, the
common convention is to use a capital letter to represent the
gene involved, and a small raised letter for each phenotype
⚫ Imagine a kind of flower which has two alleles for flower colour
⚫ The allele Cw produces white flowers, while the allele CR
produces red ones
⚫ If these alleles show codominance,
then the genotypes and phenotypes
are:
Inheritance of A, B, AB and O blood
group - an example of codominance
⚫In humans, there are 4 blood types
(phenotypes): A, B, AB, and O
⚫Blood type is controlled by 3 alleles: I A, IB, IO (the
base letter = I stands for immunoglobulin)
⚫IO is recessive, two IO alleles must be present for
the person to have type O blood
⚫IA and IB are codominant but both are dominant
to IO
⚫If a person receives an IA allele and a IB allele,
their blood type is type AB, in which
characteristics of both A and B antigens are
expressed
⚫Because IO is dominated by both IA and IB
alleles, a person with blood group A could have
the genotype IA IO or IA IA
⚫This has implication when having children
because, if both parents carry the I O allele, a
child could be born with the genotype I O IO
(blood group O), even though neither of the
parents have this phenotype
 O positive and O negative
⚫ O positive is a blood type that don’t have the A or B markers and has a Rh
factor
⚫ It don’t have antigens in red blood cells
⚫ It has anti-A antibodies and anti-B antibodies and thus act against A and B
blood types
⚫ O positive blood group people can receive blood from O positive or O
negative donor
⚫ O positive blood group people can give their blood to the people with A
positive, B positive, AB positive and O positive blood groups
⚫ O negative is a blood group that neither has the A or B markers nor the Rh
factor
⚫ In its plasma, it don’t has anti-A antibodies and anti-B antibodies
⚫ People with O negative blood group can donate their blood to all types of
blood groups either A, B, AB, O, their -ve and +ve
⚫ Thus it is also called as universal donor
 Alleles in gametes
⚫Each gamete only carry one of each pair of
alleles of all the genes (23 chromosomes, only
one of each kind)
Genetic diagrams
1. Phenotypes, genotypes of the parents and
the gametes
2. What may happen during fertilisation
3. What you would expect the offspring to be
(expected ratio)
Monohybrid cross and the punnett
square
⚫A monohybrid cross involves the crossing of
individuals and the examination of one (mono)
character (flower colour, pod shape...) and
different (hybrid) traits (red colour, white colour)
in their offspring
⚫The Punnett square is a useful tool for predicting
the genotypes and phenotypes of offspring in a
genetic cross involving Mendelian traits
 Test crosses
⚫We can find out the genotype of an individual
with the dominant phenotype for a particular
gene by crossing it with one known to have
homozygous recessive genotype of the same
gene
Pure breeding
⚫A breeder has a pure-breeding strain if all
the pure-breeding characteristics are
homozygous
⚫The offspring of two different pure-breeding
(homozygous) strains are sometimes called
the first filial generation of F1 generation
⚫They are always heterozygous
 Sex determination
⚫The last pairs of chromosomes are responsible
for determining the sex a person will be
⚫Sex chromosomes
⚫Woman’s chromosomes are both alike and are
called X chromosomes
⚫Female genotype XX
⚫A man only has one X chromosome, and the
other one is smaller and is called a Y
chromosome
⚫Male genotype XY
⚫Example p240/204
 Sex linkage
⚫ X and Y chromosome do not only determine sex, they
have other genes on them as well
⚫ For most chromosomes we have two copies of each one –
a homologous pair
⚫ Contain the same genes in the same positions
⚫ Two copies of each gene
⚫ This is however not true for sex chromosomes
⚫ Y chromosome is very small, only has a few genes
⚫ X chromosome is much larger, and has many more genes
⚫ Only one copy of the genes on the X chromosome
⚫ A woman don’t have a copy of the genes on the Y
chromosome and a man has only one copy
⚫ Genes that are found only on the non-homologous parts
of the X or Y chromosomes are called sex-linked genes
 Sex linkage
⚫One of these sex-linked genes controls the
production of the three different kinds of cone
cells in the retina
⚫A recessive allele of this gene b
⚫Results in only two types of cone cells being made
⚫Homozygous for the allele cannot tell the
difference between red and green (red-green
colour-blind)
⚫More common in men than in woman
⚫When writing the genotypes involving sex-
linked genes, you need to write the
chromosome and the allele
 DNA and protein synthesis
⚫Made of two long stands of molecules called
nucleotides
⚫Different base pairs – A, C, T or G
⚫Fig 18.17
⚫The genetic code
⚫DNA bases are ‘read’ in sets of three, called triplets
⚫CCG = amino acid glycine & CAG = valine
⚫ CCG CAG = Instructions is to join valine amino acid to a
glycine amino acid
 Protein synthesis
⚫ Protein synthesis takes place on the ribosomes in
the cytoplasm
⚫ DNA is in the nucleus
⚫ Information needs to be carried from the DNA to
the ribosomes
⚫ A messenger RNA (mRNA) is used
⚫ mRNA is made in the nucleus, copying the base
sequence from the appropriate length of DNA
⚫ mRNA moves out from nucleus into cytoplasm
and attaches to a ribosome
⚫ Ribosomes links amino acids together exactly in
the right order to make the desired protein
Variation & natural
selection
 Variation
⚫Differences between individuals of the same
species and between the features of different
individuals are called phenotypic variation
⚫Two kinds of variation: continuous & discontinuous
⚫Discontinuous – everyone fits into definite
categories, there are no in-between categories (ex
blood groups)
⚫Continuous – no definite categories, varies from
lowest and highest extremes (ex height)
⚫Measuring and recording variation
⚫Results for continuous variation will probably have a
normal distribution
⚫Describing variation can explain how organisms vary
Genetic variation
⚫Because of different genotypes
⚫Blood groups, hair colour, eye colour, height,
etc.
⚫Discontinuous variation is caused by genes
alone
Environmental variation
⚫The organism’s genotype gives it the
potential to express a certain phenotype but
it will not realise its potential if it is not in a
ideal environment
⚫Ex: pine tree
⚫Has the potential to reach a height of 30 m but
if pruned and grown in a small pot it will be
permanently stunted
⚫Continuous variation is often influenced by
both genes and the environment
Causes of genetic variation
⚫Mutation
⚫A gene changes suddenly (change in base
sequence of DNA)
⚫How new alleles are formed
⚫Only source of brand-new characteristics in the
gene pool
⚫Source of all genetic variation
Mutation
⚫Can also affect whole chromosomes
⚫ When eggs are being made by meiosis in a woman’s
ovaries, the chromosome 21s sometimes do not
separate from one another
⚫ One of the daughter cells therefore gets two
chromosome 21s and the other one none
⚫ Cell with none dies
⚫ The other one may survive and eventually be
fertilised by a sperm
⚫ Zygote have three copies of chromosome 21 =
Down’s syndrome
3 chromosome 21 in Down syndrome
⚫The presence of the extra chromosome
causes unusual characteristics in the baby
⚫These usually include lowered life expectancy,
mental retardation (although some Down’s
children are very intelligent), early puberty,
and a distinctive round face and short neck
⚫Often have heart problems and other physical
and physiological difficulties
Causes of genetic variation
⚫Mutations often happen for no apparent reason
⚫Many factors make mutations more likely
⚫Ionising radiation
⚫ Damage the bases in DNA molecules
⚫ In testes & ovaries – can alter DNA that may be passed on
⚫ Exposure can cause uncontrolled cell division, leading to
the formation of tumours (cancer)
⚫Many different chemicals
⚫ Heavy metals lead & mercury
⚫ Can interfere with the process in which DNA is copied
⚫ Daughter cells can get faulty DNA
⚫ Called mutagens
Meiosis
⚫Homologous chromosomes exchange genes
and separate from one another
⚫Gametes that form are not exactly the same
Fertilisation
⚫Two gametes of opposite types can fuse
together
⚫Many possible combinations
⚫The chances of having identical genotypes
are almost impossible
Adaptive features
⚫Survival
⚫How well adapted an organism is – fitness
⚫Greater an organism’s fitness, the greater the
chance of surviving to adulthood and reproducing
⚫Key definitions
⚫Adaptive feature: an inherited feature that helps an
organism to survive and reproduce in its environment
or
The inherited functional features of an organism that
increase its fitness
⚫Fitness: the probability of an organism surviving and
reproducing in the environment in which it is found
Adaptations of the leaf, stem and
root to different environments
⚫Plants which live in extreme environments have
adaptations to control their transpiration rate
⚫Most modifications are adaptations to very dry
(arid) environments
⚫Water plants have no problems of water shortage
⚫They do not need adaptations to conserve water
as desert plants
Adaptations of the leaf, stem and root to
different environments
⚫Plants modified to cope with a lack of water
are called xerophytes
⚫Living in deserts where water is scarce and
evaporation is rapid, or in windy habitats
where evaporation can also be rapid, they
have to cut down water loss
Marram grass (Ammophila)
⚫Very long roots to search
for water deep down in
sand dunes
⚫Leaves that roll up in dry
weather to increase humidity
around stomata, reducing transpiration
⚫Sunken stomata to create high humidity and
reduce transpiration
⚫Fine hairs around stomata, reducing air
movement so humidity builds up and
transpiration is reduced
Marram grass (Ammophila)
Prickly pear cactus (Opuntia)
Prickly pear cactus (Opuntia)
⚫Leaves reduced to spines – this reduces the
surface area for transpiration and also acts as
a defence against herbivores
⚫Reduced number of stomata
⚫Stomata closed during the day- when
conditions for transpiration are most
favourable
⚫Fleshy stem - to store water
Pine tree (Pinus)
Pine tree (Pinus)
⚫Leaves needles-shaped to reduce surface
area for transpiration and to resist wind
damage
⚫Sunken stomata to create high humidity
and reduce transpiration
⚫Thick waxy cuticle on the epidermis to
prevent evaporation from leaf surface
Pine tree (Pinus)
 Cutting down the rate of water loss by
transpiration
⚫Closing stomata → strategic timing (cannot
photosynthesise, CO2 cannot enter the leaf)
⚫Waxy cuticle → waterproof
⚫Hairy leaves → trap layer of moist air next to leaf
⚫Stomata on underside of leaves → cooler on
lower surface (fewer stomata & sunken)
⚫Cutting down on the surface area (also slows
down photosynthesis, ↓ light & ↓ CO2 absorbed)
⚫Having deep or spreading roots
Water plants (hydrophytes)
⚫Water plants may have stomata on the tops of
their leaves
⚫Water hyacinth (Eichhornia crassipes)
 Water hyacinth (Eichhornia crassipes)
⚫Roots not attached to the bed of the river or pond
where they grow, but just float freely in the water
⚫ The stems and leaf stalks have hollow spaces in
them, filled with air → help to float on the top of
the water where they can get plenty of light for
photosynthesis
⚫Leaves and stomata are on both surfaces, not just
on the underside as in most plants → allow to
absorb CO2 from the air, for photosynthesis
⚫The cuticle on the upper and lower surfaces of the
leaves is much thinner than in plants that don't
live in water, there is no need to prevent water
 Selection
⚫ Variation
⚫ Some organisms may be better adapted to their environment
than others
⚫ Over-production
⚫ Produce more young that increases chances of survival to
adulthood
⚫ Struggle for existence
⚫ Competition reduces population size
⚫ Survival of the fittest
⚫ Only the well adapted organisms will survive
⚫ Advantageous characteristics passed on to offspring
⚫ Only well-adapted organisms that will survive will be able to
reproduce (alleles that produce advantageous characteristics tot
their offspring)
⚫ Gradual change
⚫ Natural selection: genes producing advantageous phenotypes
being passed on to the next generation more frequently than the
⚫Process of adaptation: The process resulting
from natural selection, by which populations
become more suited to their environment
over many generations
⚫Evolution: the change in adaptive features
over time, as the result of natural selection
An example of natural selection
⚫P255 & 256
⚫Survival of dark and pale peppered moths in
polluted and unpolluted environments
⚫Selection pressure: predation by birds, it
‘selects’ the dark moths for survival in the
polluted areas and the pale moths in
unpolluted areas
Antibiotic resistance in bacteria
⚫Mutations occur during reproduction, which
produce some variation in the population of
bacteria
⚫Individual bacteria with the most favourable
features are most likely to survive and
reproduce
⚫This bacterium would survive the treatment and
breed, passing on the antibiotic - resistant gene
to its offspring
⚫Future treatment of this population of bacteria
using the antibiotic would be ineffective
Antibiotic resistance in bacteria
⚫There are many different antibiotics
available, if some become resistant to one,
they may be treated with another
⚫The more we use an antibiotic, the more we
are exerting a selection pressure which
favours the resistant forms
⚫A form of the bacterium Staphyloccus aureus
has become resistant to several different
antibiotics, and is known as MRSA
(methicillin-resistant Staphyloccus aureus )
Stabilising selection
⚫Natural selection does not always produce change
⚫It ensures that the organisms which are best
adapted to their environment will survive
⚫Change will only occur if the environment changes
⚫Natural selection tends to keep populations very
much the same from generation to generation =
stabilising selection
⚫If an organism is well adapted to its environment,
and if the environment stays the same, then the
organism will not evolve
 Sickle cell anaemia
⚫ Sickle cell anaemia is caused by a mutation in the blood pigment
haemoglobin
⚫ The normal allele, HbA codes for normal haemoglobin
⚫ The mutant allele, HbS codes for an allele that produces a faulty
type of haemoglobin
⚫ There is a tiny difference in the DNA base sequence, changes the
amino acid sequence in the haemoglobin
⚫ It has a tendency to produce fibres inside the red blood cell when
oxygen concentration is low
⚫ The cells get deformed (pulled) and become sickleshaped
⚫ In this state the sickled red blood cells are less efficient at
transporting oxygen and more likely to become stuck in a capillary,
preventing blood flow (sickle cell crisis)
⚫ The blockages in the blood vessels stop blood flowing to some parts
of the body, and cause pain (few hours to a week)
⚫ Cause damage to many different organs (kidneys, liver, eyes, heart)
⚫ With hospital treatment, many people with it can live into their 80’s
Sickle cell anaemia
⚫ The two alleles are codominant
⚫ The faulty allele is dominated by the allele for
normal haemoglobin, but still has some effect in a
heterozygous genotype
⚫ HbA HbA - normal haemoglobin, no anaemia
⚫ HbA HbS – mix of normal and sickle cell haemoglobin
(usually don’t show any symptoms & not life
threatening)
⚫ HbS HbS - sickle cell haemoglobin
⚫ Sickle-cell anaemia is a dangerous disease, then why
has natural selection not removed it from the human
population – malaria...
 Malaria
⚫ Malaria is a life-threatening disease caused by a parasite that
invades red blood cells
⚫ The parasite is carried by some species of mosquito
⚫ A person who is heterozygous (HbA HbS ) for sickle cell
anaemia has protection from malaria, because the malaria
parasite is unable to invade and reproduce in the sickle cells
⚫ A person who is homozygous for sickle cell anaemia (Hb S HbS )
also has protection, but is at high risk of dying form sickle cell
anaemia
⚫ A person with normal haemoglobin (HbA HbA ) in a malarial
country is at high risk of contracting malaria
⚫ When the distributions of malaria and sickle cell anaemia are
shown on a map of the work, it is found that the two coincide
in tropical areas because of the selective advantage of the Hb
allele in providing protection against malaria
⚫ The people most likely to reproduce were heterozygous people
Selective breeding
⚫Artificial selection is a method used by humans
to produce varieties of animals and plants which
have an increased economic importance
⚫People use selective breeding to produce new
varieties of a species, so that certain desirable
traits are represented in successive generations
⚫Emphasis on production traits and to survival
traits
⚫Breed now new varieties with ‘easy-care’
characteristics (less maintenance)
Artificial and natural selection
Artificial selection
⚫A variety is a type of a particular species that
is different in some clear way from other
varieties of that species
⚫The different breeds of domestic dogs and
large ears of maize corn are products of
artificial selection
⚫These common vegetables were cultivated
from forms of wild mustard.
⚫This is evolution through artificial selection
Selective breeding of cows
⚫Suppose you wanted a variety of cow that
produced a lot of milk
⚫This is what you could do:
⚫choose or select the cows in your herd that
produce the most milk
⚫let only these cows reproduce
⚫select the offspring that produce the most milk
⚫let only these offspring reproduce
⚫keep repeating the process of selection and
breeding until you achieve your goal.
Natural selection
⚫Natural selection is the process by which
plants and animals that can adapt to changes
in their environment are able to survive and
reproduce while those that cannot adapt do
not survive
⚫It gives the greater chance of passing on of
genes by the best adapted organisms